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Global Genes Guide to Genetic Diagnosis

August 19, 2025

This Global Genes Quick Guide is a resource for advocates focused on pressing topics causing challenges in their lives and communities. 

A Global Genes Quick Guide to Genetic Diagnosis

We can assume a bit about you, the reader. You sought out Global Genes so you probably suspect a rare disease is behind the symptoms you or a loved one are experiencing. You also probably don’t know exactly which rare disease or else this particular article wouldn’t be of interest to you.  So how do you go from where you are now (lacking a diagnosis) to doing all you can to get a diagnosis.  Your path will likely include getting genetic testing done (since 80% of rare diseases are caused by changes in our genes). We’d like to take some of the mystery out of that process.

 

Here are some steps to getting a genetic test:

  1. Understand why you want a genetic test – Do you have a condition that runs in your family? Did another family member test positive on their genetic test? Are you thinking about having a child and want to know your risk of passing on a known condition? Knowing your goal will help guide your decisions and conversations with healthcare professionals.
  2. Talk to a genetic counselor – Make an appointment with your doctor, talk to them about your concerns and ask for a referral to a genetic counselor. If your doctor is not open to helping you, find a genetic counselor yourself using this national genetic counselor directory
  3. Learn about the pros and cons of testing– Speak with your genetic counselor about your various testing options and what to do if your results come back as negative or inconclusive. Ask questions about how to pay for testing and how your genetic information will be kept private.
  4. Provide a sample – Depending on the test that your genetic counselor recommends, you’ll give a sample of your saliva, cheek swab or a blood sample. 
  5. Wait for the results – Your sample will be sent to a certified laboratory for testing and analysis. Results can take anywhere from a few days to several weeks. Your doctor or genetic counselor will contact you once the results are back.
  6. Understand your results – Your doctor or genetic counselor will share your results and explain what the results mean for you, whether positive, negative or inconclusive.
  7. Plan for treatment – Once you have your results, speak with your doctor about how your results impact your treatment.
  8. Plan for next steps if you do not get a definite answer – Speak with your genetic counselor and doctor about additional testing that could be appropriate if your results come back negative or inconclusive.
  9. Connect with others – Reach out and connect with others that also have the same diagnosis. This will help you ‘find your community’, feel less isolated and learn from each other.

Other tips:

    • Consider the cost: Ask your genetic counselor if your test is covered by insurance and if there are any free testing programs that they can connect you to. 
    • Confirm that testing is being done by a reputable, certified clinical testing laboratory or company.
    • Emotional preparedness: Be ready for any result—whether it’s good news, inconclusive, or something unexpected.
    • Respect your family’s decisions: If additional family members are not interested in getting tested, respect their decision and do not force them to get tested.

 

Access to Testing
What to do if your medical team will not order a genetic test.

Sometimes, it can be challenging for families to get access to genetic testing. This is where the expertise of a licensed genetic counselor will be helpful, as they can review your health and family history, discuss the pros and cons of testing, determine the most appropriate type of testing and order the test.  

How to access genetic testing:

  • Talk to your doctor for a referral to a licensed genetic counselor.
  • For US-based patients, if your doctor is not able to provide a referral, you can find one yourself by using the Genetic Counselor Directory from the National Society of Genetic Counselors.
  • Many genetic counselors not only see patients in-person, but are also able to provide tele-health appointments.
  • You can also access genetic counseling and testing through commercial providers of telehealth-based genetic services such as Informed DNA and Genome Medical.

 

Affording Testing

What to do if your insurance will not cover your genetic testing.

  • Talk to a genetic counselor. Many health insurance companies are increasingly covering the cost of testing and a genetic counselor can help you navigate that process with your insurance company. 
  • In cases where health insurance does not cover the cost of genetic testing, you may consider covering the cost yourself. Some testing companies offer payment plans so be sure to ask about these. If you do decide to pay out-of-pocket, be sure to compare prices across multiple testing companies.
  • Genetic counselors can also suggest other ways to access testing such as free, sponsored testing programs, financial aid programs and research studies that include genetic testing.
  • Some genetic testing companies offer financial assistance programs for certain disease areas. Speak to your genetic counselor about these options.
  • If your insurance company initially denies genetic testing, you have the right to appeal that decision

 

 

“Sometimes, people don’t realize that genetic testing could be the key to finding answers to unexplained symptoms. They often see their symptoms as isolated issues rather than part of a bigger picture. Understanding your DNA can uncover hidden connections, confirm a diagnosis, or even reveal treatment options that weren’t obvious before. It’s not just about solving a mystery, it’s about empowering your health journey.”
–  Shruti Mitkus, Global Genes Director of Patient Services

 

 

“Genetic testing is an invaluable tool for uncovering the underlying causes of unexplained symptoms. It provides clarity, opens doors to potential treatments, and empowers families with knowledge to take meaningful steps toward better care and connection with others facing similar challenges.”
–  Carrie Borrello, Rare mom and advocate

 

 

“A genetic diagnosis can be used to unlock deeper understanding of a condition, to advocate for resources and interventions, and to identify invaluable communities for families.”
 – Caitlyn Ark, genetic counseling student and Global Genes intern

 

 

“Genetic testing provides valuable insights that enable patients and healthcare providers to take a proactive approach to managing health. A genetic diagnosis allows patients and providers to be more prepared for possible health concerns, rather than waiting for symptoms to manifest and responding to them then.”

  • Hannah Hubner, genetic counseling student and Global Genes intern

 

 

“Genetic testing is not perfect and our ability to interpret genetic information is only as good as what we understand about human genetics today. A negative or uninformative genetic test does not rule out the possibility of a genetic diagnosis. You may need multiple types of genetic testing to finally identify a diagnosis or you may exhaust all currently available options, which if that is the case, ask to be connected with research opportunities or a NIH Undiagnosed Disease Network (UDN) site. As genetic testing and our knowledge of human genetics improves, we may be able to find a diagnosis that previously was undetected.”

  • Allison (Goetsch) Weisman, MS, CGC

 

“Whole genome, microbiome, and pharmacogenomics sequencing transformed my healthcare by filling in gaps. It personalized my treatment plan, directly affecting my disease risk, response to therapies, and health management. With this data, my doctors could pinpoint long-term and immediate treatment strategies, leading to tailored decisions that improved my treatment effectiveness and health outcomes. This unique individualized care approach refined my diagnoses and equipped me for proactive health management, providing tools for preventive care for my rare disease.”

  • Barby Ingle, President, International Pain Foundation

 

More resources:

 

Pre-testing (leading up to a diagnosis):

 

Working with a Genetic Counselor

 

Understanding Genetic Testing

 

Resources for after your testing


Resources for the Undiagnosed



 

A short horizontal rule divider which looks like a genetic scan

Global Genes 2025 Quick Guide Series is our way to respond to a common need we have heard for more information in the rare community. Think of them as the answer to one frequently asked question or pain point we have heard from our Rare Concierge, our online and in person communities and our Global Advocacy Alliance.  Each one is complete with links to additional related resources across various media types, both those that are authored by Global Genes and from outside sources as well.

This series is supported in part by: Amgen, Amicus, Beam Therapeutics, Biocryst,  BridgeBio, Chiesi, Mallinckrodt Pharmaceuticals, Merck, and Parexel

 

This guide is supported in part by: Illumina

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